المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115477/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip
https://doi.org/10.1126/sciadv.ade1463

المؤلفون: Vegas, N., Demir, Z., Gordon, Christopher T., Breton, S., Romanelli Tavares, V., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Gherbi Halem, S., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, Florence, Propst, E. J., Papsin, B. C., Phillips, J. H., Jakobsen, L., Le Tanno, P., Thévenon, J., Mcgaughran, J., Gerkes, E. H., Leoni, C., Kroisel, P., Yang Tan, T., Henderson, A., Terhal, P., Basel-Salmon, L., Alkindy, A., White, S. M., Passos Bueno, M. R., Pingault, V., De Pontual, L., Amiel, Jeanne

المساهمون: Université de Lille, CHU Lille, Embryology and genetics of human malformation Equipe Inserm U1163, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163

مصطلحات موضوعية: auriculocondylar syndrome, craniofacial anomalies, EDN1, GNAI3, PLCB4, question mark ear

وصف الملف: application/octet-stream

Relation: Hum Mutat; http://hdl.handle.net/20.500.12210/84161

الاتاحة: https://hdl.handle.net/20.500.12210/84161

المؤلفون: Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F.

المصدر: Science Advances; 2375-2548; 10; 9; eade1463; ~Science Advances~~~~~2375-2548~10~9~~eade1463

URL: https://repository.ubn.ru.nl/handle/2066/290785

المؤلفون: Vegas, N., Demir, Z., Gordon, Christopher T., Breton, S., Romanelli Tavares, V., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Gherbi Halem, S., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, Florence, Propst, E. J., Papsin, B. C., Phillips, J. H., Jakobsen, L., Le Tanno, P., Thévenon, J., Mcgaughran, J., Gerkes, E. H., Leoni, C., Kroisel, P., Yang Tan, T., Henderson, A., Terhal, P., Basel-Salmon, L., Alkindy, A., White, S. M., Passos Bueno, M. R., Pingault, V., de Pontual, L., Amiel, Jeanne

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universidade de São Paulo = University of São Paulo (USP), Dokkyo Medical University, Ghent University Hospital, Universiteit Gent = Ghent University = Université de Gand (UGENT), The University of Hong Kong (HKU), Cliniques Universitaires Saint-Luc Bruxelles, Université Catholique de Louvain = Catholic University of Louvain (UCL), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Clinique de Génétique médicale Guy Fontaine CHRU LIlle, University of Toronto, The Hospital for sick children Toronto (SickKids), Copenhagen University Hospital, Université Grenoble Alpes (UGA), Royal Brisbane & Women's Hospital Brisbane, Australia (RBWH), The University of Queensland (UQ All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations ), University Medical Center Groningen Groningen (UMCG), University of Groningen Groningen, Fondazione Policlinico Universitario A. Gemelli Rome (FPUAG), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart Roma (Unicatt), Medical University of Graz = Medizinische Universität Graz, Murdoch Children's Research Institute (MCRI), University of Melbourne, Newcastle Upon Tyne Hospitals NHS Foundation Trust, University Medical Center Utrecht (UMCU), Schneider Children’s Medical Center of Israel Petah Tikva, Raphael Recanati Genetics Institute Petah Tikva, Rabin Medical Center, Tel Aviv University (TAU), Sultan Qaboos University (SQU), Hôpital Jean Verdier AP-HP

المصدر: Hum Mutat. ; https://hal.univ-lille.fr/hal-04616696 ; Hum Mutat., 2022, Hum Mutat, 43 (5), pp.582-594. ⟨10.1002/humu.24349⟩

مصطلحات موضوعية: auriculocondylar syndrome, craniofacial anomalies, EDN1, GNAI3, PLCB4, question mark ear, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35170830; PUBMED: 35170830

الاتاحة: https://hal.univ-lille.fr/hal-04616696
https://doi.org/10.1002/humu.24349

المؤلفون: Vegas, N, Demir, Z, Gordon, CT, Breton, S, Tavares, VLR, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, NM, Kido, Y, Marlin, S, Halem, SG, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, EJ, Papsin, BC, Phillips, JH, Jakobsen, L, Le Tanno, P, Thevenon, J, McGaughran, J, Gerkes, EH, Leoni, C, Kroisel, P, Tan, TY, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, SM, Passos-Bueno, MR, Pingault, V, De Pontual, L, Amiel, J

Relation: Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Halem, S. G., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B. C. ,. Amiel, J. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. HUMAN MUTATION, 43 (5), pp.582-594. https://doi.org/10.1002/humu.24349.; http://hdl.handle.net/11343/310378

الاتاحة: http://hdl.handle.net/11343/310378